Enzyme Treatment

[Guest Posts]

I’d like to ask your specialists if they have any information around the progress being made with enzyme treatment for ichthyosis (replacing transglutaminase 1) and their professional opinions of such a treatment. Thank you (Camilla)

[Dr Anna Martinez]

Unfortunately I am not aware of any trials certainly in children with enzyme treatment for ichthyosis

[Edel O' Toole]

A company called Krystal has developed gene therapy called KB105 for the treatment of transglutaminase (TGM1)-Deficient Autosomal Recessive Congenital Ichthyosis (ARCI/lamellar ichthyosis). KB105 uses an inactive virus which likes skin to deliver functional TGM1 genes directly to the skin in order to express the transglutaminase-1 enzyme in the skin.

https://clinicaltrials.gov/ct2/show/NCT04047732

A small number of patients have had treatment in a localised area with apparently good results and are currently being followed up to make sure there are no side effects of this treatment.